Variant report

Variant	rs7215588
Chromosome Location	chr17:17014844-17014845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17014229..17016435-chr17:17023401..17025123,2	K562	blood:
2	chr17:17011246..17012827-chr17:17014614..17017458,3	K562	blood:
3	chr17:17006139..17008392-chr17:17014164..17016773,2	K562	blood:
4	chr17:17011246..17012755-chr17:17014614..17017121,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11867273	1.00[EUR][1000 genomes]
rs11867522	1.00[CEU][hapmap]
rs11867723	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868052	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11868102	1.00[EUR][1000 genomes]
rs11868191	1.00[EUR][1000 genomes]
rs11868392	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11868908	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11869283	1.00[CEU][hapmap]
rs11869415	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11869423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870335	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870441	1.00[EUR][1000 genomes]
rs11870488	1.00[EUR][1000 genomes]
rs11871120	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs57958042	1.00[EUR][1000 genomes]
rs61729732	1.00[EUR][1000 genomes]
rs6502556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502557	1.00[YRI][hapmap]
rs6502558	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502559	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207396	1.00[EUR][1000 genomes]
rs7209447	1.00[EUR][1000 genomes]
rs7211205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213477	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7215338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7216705	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220492	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223773	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7225532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7225977	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8064296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8065260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066280	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067672	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068587	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8070944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073346	1.00[CEU][hapmap]
rs8075194	1.00[CEU][hapmap]
rs8078661	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080972	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890700	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16997000-17016600	Enhancers	Left Ventricle	heart
2	chr17:16998200-17016200	Enhancers	Fetal Heart	heart
3	chr17:16998600-17015400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr17:16998600-17016600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr17:17000200-17018200	Weak transcription	NH-A	brain
6	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:17006800-17016600	Enhancers	Right Ventricle	heart
9	chr17:17007400-17016600	Enhancers	Pancreas	Pancrea
10	chr17:17007600-17016600	Enhancers	Right Atrium	heart
11	chr17:17007800-17015400	Enhancers	Psoas Muscle	Psoas
12	chr17:17007800-17021000	Weak transcription	HepG2	liver
13	chr17:17008000-17017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:17008400-17015000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:17008400-17016600	Enhancers	Placenta	Placenta
16	chr17:17009200-17015400	Enhancers	Ovary	ovary
17	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
18	chr17:17009400-17015000	Enhancers	Adipose Nuclei	Adipose
19	chr17:17009400-17016000	Enhancers	Esophagus	oesophagus
20	chr17:17009400-17016200	Genic enhancers	A549	lung
21	chr17:17009400-17016600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr17:17009400-17020600	Enhancers	Lung	lung
23	chr17:17009600-17015400	Enhancers	Brain Hippocampus Middle	brain
24	chr17:17009600-17015400	Genic enhancers	Fetal Intestine Small	intestine
25	chr17:17009800-17015000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:17009800-17015600	Genic enhancers	HSMM	muscle
27	chr17:17009800-17017000	Enhancers	Brain Angular Gyrus	brain
28	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:17010200-17016200	Enhancers	Gastric	stomach
30	chr17:17010200-17017200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:17010200-17021600	Weak transcription	Dnd41	blood
32	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:17010400-17015600	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
36	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:17010600-17015400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:17010800-17016400	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:17011000-17015000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr17:17011000-17019200	Enhancers	Primary B cells from cord blood	blood
41	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
42	chr17:17011400-17021600	Weak transcription	Aorta	Aorta
43	chr17:17011600-17015400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:17011600-17017000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr17:17011800-17017800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:17011800-17018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:17012200-17015200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr17:17012200-17018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:17012400-17015000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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